Canonical Allele Identifier: CA276565325

Linked Data

dbSNP Id: rs762387067
gnomAD v2: 16-731505-G-A
gnomAD v4: 16-681505-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681505G>A , CM000678.2:g.681505G>A GRCh38
NC_000016.9:g.731505G>A , CM000678.1:g.731505G>A GRCh37
NC_000016.8:g.671506G>A NCBI36
NG_034141.1:g.6395G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.426G>A (STUB1) MANE Select ENSP00000219548.4:p.Ala142=
ENST00000219548.8:c.426G>A (STUB1) ENSP00000219548.4:p.Ala142=
ENST00000563505.5:n.522G>A (STUB1)
ENST00000564316.1:c.25G>A (STUB1)
ENST00000564370.5:c.210G>A (STUB1) ENSP00000456875.1:p.Ala70=
ENST00000565677.5:c.210G>A (STUB1) ENSP00000457228.1:p.Ala70=
ENST00000566181.2:n.195G>A (STUB1)
ENST00000566408.5:c.143G>A (STUB1)
ENST00000567173.5:c.369G>A (STUB1) ENSP00000456591.1:p.Ala123=
ENST00000569248.5:n.1000G>A (STUB1)
ENST00000620831.4:c.-50+38202G>A (MSLN) ENSP00000482893.1:n.-50+38202G>A
NM_001293197.1:c.210G>A (STUB1) NP_001280126.1:p.Ala70=
NM_005861.3:c.426G>A (STUB1) NP_005852.2:p.Ala142=
NM_005861.4:c.426G>A (STUB1) MANE Select NP_005852.2:p.Ala142=
NM_001293197.2:c.210G>A (STUB1) NP_001280126.1:p.Ala70=